Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:169563612-169564154	GM12878	blood:	n/a	n/a
2	NFYB	chr1:169563892-169564172	GM12878	blood:	n/a	n/a
3	IKZF1	chr1:169563622-169564147	GM12878	blood:	n/a	n/a
4	PAX5	chr1:169563594-169564191	GM12878	blood:	n/a	n/a
5	EP300	chr1:169563579-169564135	GM12878	blood:	n/a	n/a
6	RELA	chr1:169563604-169564189	GM12891	blood:	n/a	n/a
7	EBF1	chr1:169563729-169564154	GM12878	blood:	n/a	n/a
8	RELA	chr1:169563591-169564130	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169562439..169565344-chr1:169568413..169571209,3	K562	blood:
2	chr1:169553531..169554398-chr1:169563651..169564307,2	MCF-7	breast:

Variant related genes	Relation type
SELP	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1018828	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16862374	1.00[JPT][hapmap]
rs16862375	1.00[JPT][hapmap]
rs17522707	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3917792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917795	0.94[AFR][1000 genomes]
rs3917802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917803	0.94[AFR][1000 genomes]
rs3917806	0.94[AFR][1000 genomes]
rs3917810	1.00[JPT][hapmap]
rs3917811	0.89[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs3917818	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3917819	0.83[ASW][hapmap];1.00[CHB][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs3917820	1.00[CHB][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs3917824	0.83[ASW][hapmap];1.00[CHB][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs3917836	1.00[JPT][hapmap]
rs3917840	1.00[JPT][hapmap]
rs3917848	1.00[JPT][hapmap]
rs3917851	1.00[JPT][hapmap]
rs3917853	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3917862	1.00[CHB][hapmap]
rs6132	0.93[AFR][1000 genomes]
rs6133	1.00[CHB][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs6135	0.93[AFR][1000 genomes]
rs6664922	1.00[JPT][hapmap]
rs742125	0.94[AFR][1000 genomes]
rs742126	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1569471	ATP1B1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169561600-169565000	Weak transcription	Liver	Liver
4	chr1:169562600-169564200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:169563400-169564200	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:169563400-169564400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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